There are many rewards for pediatricians. On the most basic level, we are in this business to benefit children and thereby the future. More specific reinforcements differ by career: practicing pediatricians get thanked many times each day when parents and children dress up to see you, dwell on your advice, and thank you. Academic pediatricians have the fun of teaching and less frequent but larger rewards of tenure, promotions, and acceptance of a paper or a grant; and, of course, some of us participate in both worlds. However, there is nothing quite like the reward of tracking down a complex diagnosis or successfully managing a difficult clinical problem. This is more like a game because you can win or lose, and if you play, it can help keep practice from getting old and boring.
Tracking down a diagnosis for a child with "spells" is at or near the top of challenging clinical dilemmas. "Spells" are often complex, and they can originate from a wide variety of sources; making a diagnosis is often tough. We need to start with some definitions. Spells are episodic events characterized by alteration in level of consciousness or intermittent change in motor function, sensory perception, or cognitive function. In general, spells resemble seizures; consequently, epilepsy is generally in the list of possible diagnoses for a child with spells.
This issue is about spells that mimic seizures but fail to fit the definition for the latter. "A seizure is an episodic clustering of involuntary movements or behaviors of cerebral origin."1 The two key elements here are the term involuntary and the fact that, clinically and electrographically, seizures originate in the cerebral cortex. Seizures can be generalized (both cerebral hemispheres are involved) or partial (the clinical or electrographic onset is derived from one hemisphere). They can be complex or simple depending on whether consciousness is or is not impaired. The nonepileptic spells described in this issue can have elements in common with partial or general, simple, or complex seizures. However, their pathogenesis can be behavioral or they can originate from the cardiac, pulmonary, or gastrointestinal systems or from any part of the central nervous system instead of only from within the cerebral cortex.
As you will see from this issue, tracking down a diagnosis may not be easy. You can of course choose to refer all spells to subspecialists. However, even if you make a referral, you have to do enough of an evaluation to decide whether to send the patient to a psychiatrist or psychologist, neurologist, gastroenterologist, cardiologist, or, occasionally, an otolaryngologist or ophthalmologist. This editorial describes some techniques that may help simplify the work-up.
The most important tool in the diagnosis of spells is the history. What are the elements of a good history in general, and how does the history apply to finding the etiology of a spell? Getting the history of the present illness is most important and has two main components. The first is the complete story of the current problem from onset. The second is equally important and often neglected: after getting the story, the pediatrician should probe to rule in or rule out specific diagnoses. As soon as you hear the chief complaint and continuing throughout hearing the description of the present illness, your mind will be sorting through a differential diagnosis list in an almost subconscious or passive way. As the story unfolds, and without your consciously thinking about it, new diagnoses appear, others are dropped, and others move up and down on the mental list. Probing should then explore into the real possibility of each diagnosis. One reason the probing process is almost subconscious is that the list of differential diagnoses are not ordinarily recorded in the present illness history. Instead, answers to the probing questions are recorded and the reader can usually tell what diagnoses were being considered from the nature of these answers. The following are some examples of initial probing questions in the evaluation of a child with spells.
* "Describe the last spell from the very first thing you noticed until your child was completely back to normal. Give me everything you saw, felt, or heard." You often get more if the patient describes a specific spell - either the last or the last typical one - than you do by asking them to describe what the child's spells are like in general.
* "What things seem to bring on these spells?" As presented in this issue, spells are less likely to be seizures if outside stimulation seems to precipitate them.
* "Is your child completely awake during these spells? If you talk to him or grab him, does he answer or respond? Does he seem to know what is happening and remember what happened?" A history of a decreased level of consciousness during a spell favors a seizure but is not diagnostic because syncope, migraine, and breath-holding spells can overlap here.
* "Do the spells occur only when your child is asleep, only when awake, or both?" Sleep disorders occur only with sleep, seizures may happen during sleeping or waking states, and other spells usually only occur while the patient is awake.
* "Has your child been taking any medications or been exposed to any drugs or toxins during the present illness"?
* Probe for changes in neurological function. "Has there been any change in personality or school performance?" If too young for school: "Can your child talk as well and do the same things as other children his or her age?"
Other probing questions can help determine whether or not a patient had a seizure. The following are more specific for seizures:
* Are there any consistent patterns that suggest a pre-ictal or post- ic tal state? The patient who cries out just before a spell or quietly seeks refuge because he or she knows something is coming in a few seconds are helpful but not seen very commonly. On the other hand, the lethargic post-ictal state in which the child sleeps or is not fully arousable for an hour to several hours after a spell, especially if there are transient neurologic signs like Todd's paralysis, is common and typical of a convulsion.
* Parents often have trouble describing a convulsion. When the "spell" is sudden, dramatic, and frightening, their emotional state does not permit clear observation and memory. This characteristic supports the diagnosis of a seizure by itself.
* "What were the child's eyes doing during the spell? Were they open or closed, straight ahead or deviated, seeing or not seeing, still or jerking?" Open, staring, deviated, and not seeing all support a seizure.
* "What movements was the child making? Can you make those same movements now for me?" The jerking movements of a seizure are different from those of movement disorders or shivering.
* "Was your child stiff or limp?" Hypertonicity during a spell with or without clonic movements supports a seizure.
From there, the probing will be more specific and directed at possible diagnoses. For example, if the differential diagnosis includes epilepsy with cyanosis secondary to a seizure, versus a cyanotic breath-holding spell followed by an apparent seizure, an important probing question will be: "which comes first - the cyanosis or the seizure?" Use this issue of Pediatric Annals to develop your list of differential diagnoses and for the best probing questions when you encounter a spell.
The past medical history and a review of systems should be undertaken while looking for clues to the presence of metabolic diseases, head trauma, central nervous system infections, headaches, chronic lead or other toxin ingestion, or any other neurologic disorder, as should the overall review. Look for prior behavioral problems and family dysfunction. The developmental history will help assess neurologic function and growth.
Taking a family history is key because many of the causes of spells can be inherited. Knowing whether relatives had migraine, epilepsy, sudden death as from prolonged QT syndrome, or spells that resemble those of the patient will help. Even breath-holding spells, both cyanotic and pallid types, may have a positive family history (as described by Dr. Evans in this issue).
So play the game. See how far you can chase down the answer to a diagnostic puzzle before referral. The mind is an amazing and complex organ. We have relatively little understanding of how it really works. It is no wonder that spells can present in such a variety of forms.
1. Barron T. The child with spells. Pediatr Clin North Am. 1991;38:711-724.